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[原发性肿瘤中的BRAF(T1799A)突变作为乳头状甲状腺癌风险、复发或持续存在的标志物]

[BRAF(T1799A) mutation in the primary tumor as a marker of risk, recurrence, or persistence of papillary thyroid carcinoma].

作者信息

Cañadas Garre Marisa, López de la Torre Casares Martín, Becerra Massare Patricia, López Nevot Miguel Ángel, Villar Del Moral Jesús, Muñoz Pérez Nuria, Vílchez Joya Ricardo, Montes Ramírez Rosa, Llamas Elvira José Manuel

机构信息

Servicio de Medicina Nuclear, Hospital Universitario Virgen de las Nieves, Granada.

出版信息

Endocrinol Nutr. 2011 Apr;58(4):175-84. doi: 10.1016/j.endonu.2011.02.006.

DOI:10.1016/j.endonu.2011.02.006
PMID:21441079
Abstract

BACKGROUND AND OBJECTIVE

The BRAF(T1799A) mutation is reported to be associated to aggressive, persistent, and recurrent tumor in papillary thyroid carcinoma (PTC) patients. Association of the BRAF(T1799A) mutation in the primary tumor with the clinicopathological characteristics of PTC patients was analyzed.

PATIENTS, MATERIAL AND METHODS: Ninety-seven PTC patients were followed up for a median of 64.1 months. The BRAF(T1799A) mutation was analyzed in DNA from initial thyroidectomy biopsies by PCR amplification and restriction fragment length polymorphism using TspRI enzyme. Positive cases were confirmed by DNA sequencing. Statistical association between BRAF(T1799A) mutation and clinicopathological characteristics was analyzed by the relevant hypothesis tests and logistic regression.

RESULTS

46.4% of patients were positive for the BRAF(T1799A) mutation. Bivariate and multivariate analysis showed the BRAF(T1799A) mutation to be only associated to age over 60years (odds ratio [OR] = 5.5; 95% confidence interval [CI],1.4-21.9; p=0.019) and to tumor size of 1cm or greater (OR=3.6, 95% CI, 1.2-10.3; p=0.016). The BRAF(T1799A) mutation was not associated to histological subtype, metastasis, recurrence, more aggressive treatments (ablative I(131) therapy or surgery), or PTC persistence at the end of follow-up.

CONCLUSIONS

The BRAFT1799A mutation is associated to age over 60 and a tumor size of 1cm or greater, but not to other clinicopathological characteristics, tumor recurrence or PTC persistence.

摘要

背景与目的

据报道,BRAF(T1799A)突变与甲状腺乳头状癌(PTC)患者侵袭性、持续性和复发性肿瘤相关。分析原发性肿瘤中BRAF(T1799A)突变与PTC患者临床病理特征的相关性。

患者、材料与方法:对97例PTC患者进行了中位时间为64.1个月的随访。通过PCR扩增和使用TspRI酶的限制性片段长度多态性分析初次甲状腺切除活检组织DNA中的BRAF(T1799A)突变。阳性病例通过DNA测序确认。通过相关假设检验和逻辑回归分析BRAF(T1799A)突变与临床病理特征之间的统计学关联。

结果

46.4%的患者BRAF(T1799A)突变呈阳性。双变量和多变量分析显示,BRAF(T1799A)突变仅与60岁以上年龄(比值比[OR]=5.5;95%置信区间[CI],1.4 - 21.9;p = 0.019)和肿瘤大小1cm或更大(OR = 3.6,95% CI,1.2 - 10.3;p = 0.016)相关。BRAF(T1799A)突变与组织学亚型、转移、复发、更积极的治疗(消融性I(131)治疗或手术)或随访结束时PTC的持续存在无关。

结论

BRAF T1799A突变与60岁以上年龄和肿瘤大小1cm或更大相关,但与其他临床病理特征、肿瘤复发或PTC的持续存在无关。

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